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1.
Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome 总被引:4,自引:1,他引:3
S. N. Thibodeau H. R. Dorkins K. R. Faulk R. Berry A. C. M. Smith R. Hagerman A. King K. E. Davies 《Human genetics》1988,79(3):219-227
Summary Linkage data, using the polymorphic markers 52A (DXS51), F9, 4D-8(DXS98), and St14(DXS52), are presented from 14 fragile X pedigrees and from 7 normal pedigrees derived from the collection of the Centre d'Étude du Polymorphisme Humaine. A multipoint linkage analysis indicates that the most probable order of these four loci in normal families is DXS51-F9-DXS98-DXS52. Recombination frequencies (
) corresponding to maximum LOD scores (
) were obtained by two-point linkage analysis for a nuber of linkage groups, including: DXS51-F9 (
=5.94,
=0.03), F9-DXS98 (
=0.51,
=0.26), F9-DXS52 (
=0.84,
=0.27), and DXS98-DXS52 (
=0.32,
=0.20). A multipoint linkage analysis of these loci, including the fragile X locus, was also performed for the fragile X population and the data support the relative order (DSX51, F9, DXS98)-FRAXA-DXS52. Recombination frequencies and maximum LOD scores, which again were derived from two-point linkage analyses, were obtained for the linkage groups DXS51-F9 (
=9.96,
=0) and F9-DXS52 (
=0.07,
=0.45), as well as for the groups DXS51-FRAXA (
=2.42,
=0.15), F9-FRAXA (
=1.30,
=0.18), DXS98-FRAXA (
=0.05
=0.36), and DXS52-FRAXA (
=2.42
=0.15). The linkage data was further tested for the presence of genetic heterogeneity both within and between the fragile X and normal families for the intervals DXS51-F9, F9-DXS52, F9-FRAXA, and DXS52-FRAXA using a modification of the A test. Except for the interval F9-FRAXA (P<0.10) there was no evidence of genetic heterogeneity for each of the various linkage groups examined. The heterogeneity detected for the interval F9-FRAXA, however, was most likely due to one family (Fx-28) that displayed very tight linkage between these two loci. 相似文献
2.
Water uptake by barley roots as affected by the osmotic and matric potential in the rhizosphere 总被引:2,自引:0,他引:2
U. Schleiff 《Plant and Soil》1986,94(1):143-146
Summary The water uptake rates of roots in saline soils are depressed by the simultaneously decreasing matric
and osmotic
water potentials in the soil surrounding the roots (rhizospheric soil). Unfortunately there are no reliable tools available
for direct measurements of the effect of decreasing water potentials in the rhizospheric soil on the uptake rate of soil water
by roots. This paper presents some results of a vegetation technique for studying the effect of different combinations of
osmotic and matric water potentials in the rhizospheric soil on the water uptake rates of barley roots.
Water uptake rates were reduced to a greater extent by decreasing soil matric water potentials than by decreasing soil osmotic
water potentials. According to the results of this experiment, there was no relationship between the total soil water potential
of a sandy soil and the water uptake rates when the roots were exposed to different combinations of
and
. 相似文献
3.
M. -T. Linossier D. Dormois R. Fouquet A. Geyssant C. Denis 《European journal of applied physiology and occupational physiology》1996,74(5):420-427
A group of 15 untrained male subjects pedalled on a friction-loaded cycle ergometer as fast as possible for 5–7 s to reach
the maximal velocity (V{immax}) against different braking forces (F
B). Power was averaged during a complete crank rotation by adding the power dissipated againstF
B to the power necessary to accelerate the flywheel. For each sprint, determinations were made of peak power output (
) power output attained atV
max (
) calculated as the product ofV
max andF
B and the work performed to reachV
max expressed in mean power output (
). The relationships between these parameters andF
B were examined. A biopsy taken from the vastus lateralis muscle and tomodensitometric radiographs of both thighs were taken
at rest to identify muscle metabolic and morphometric properties. The
value was similar for allF
B. Therefore, the average of values was defined as corrected maximal power (
). This value was 11 higher than the maximal power output uncorrected for the acceleration. Whereas the
determination did not require high loads, the highest
value (
) was produced when loading was heavy, as evidenced by the
-F
B parabolic relationship. For each subject, the braking force (
) giving
was defined as optimal. The
, equal to 0.844 (SD 0.108) N · kg−1 bodymass, was related to thigh muscle area (r = 0.78,P < 0.05). The maximal velocity (
) reached against this force seemed to be related more to intrinsic fibre properties (% fast twitch b fibre area and adenylate
kinase activity). Thus, from the
determination, it is suggested that it should be possible to predict the conditions for optimal exercise on a cycle ergometer. 相似文献
4.
Summary In a data base consisting of 1665 pairs of loci linkage between Inv and Jk is significant
. Recombination is nearly the same in the two sexes
. The reason why this linkage was not noticed earlier is discussed. 相似文献
5.
Syun’iti Iwao 《Population Ecology》1976,18(1):243-260
Summary and Conclusion The measurement of spatial association between two species is considered on the basis of interspecies mean crowding. Two indices
of overlapping, γ andC
μ, are derived as geometric and weighted arithmetic means of the same component ratios related to inter- and intraspecies mean
crowdings. Both indices behave in a similar way, ranging from 1 when the distributions of two species are completely overlapped
to 0 when they are completely exclusive with each other. The former is essentially identical with indices proposed byKuno (1968) andPianka (1973), and the latter is a modified form ofMorisita’s (1959)C
δ index. Indices to measure the degree of spatial correlation between species, ω andR
μ, are then derived for both kinds of overlapping indices, which vary from 1 in complete overlapping, through 0 in independent
occurrence, to −1 in complete exclusion.
Various kinds of interspecies association are analyzed using these indices and an extended form of the
regression graph which provides a convenient way of indicating the spatial interrelation between two species as well as distribution
patterns of respective species.
The method presented in this paper may also be applicable to compare temporal distribution patterns between species, similarity
between communities, etc. For such a wider application which includes continuous as well as discrete distributions, the interpretation
of intra- and interspecies mean crowdings is not necessarily appropriate, and hence the concept of mean concentration with
the symbols
and
for intraspecies relation and
and
for interspecies relation is suggested.
This study was supported by Science Research Fund (No. 148041) from the Ministry of Education. 相似文献
6.
Bovine adenohypophysial tissue was dissociated by sequential enzymatic incubation in a continuous flow system. Dispersed cells
separated into discrete fractions after centrifugation in isopycnic bovine serum albumin gradients. The dispersed and separated
cells were prepared for microscopic identification and differential counts by centrifugal cytology. Radioimmunoassays for
LH, FSH, TSH, and Prl were used to corroborate the differential counts and determine the homogeneity of the fractions. The
thyrotrophs banded at an average density (
) of 1.0417, the FSH-secretory cells at
, the LH-secretory cells at
, and the Prl-secretory cells at
. A 7–16 fold enrichment of different cell populations was possible. In bovine hypophyses each hormone appears to be formed
by specific cells: the average TSH concentrations of the thyrotrophs were 5.1 pg/cell and the average LH and FSH concentrations
were 4.7 and 4.9 pg/cell for LH-and FSH-secreting cells, respectively. The average Prl concentration was 4.9 pg/cell for Prl-secreting
cells. 相似文献
7.
Robert Rosen 《Bulletin of mathematical biology》1963,25(2):231-241
It has been shown in earlier work that one approach to what Rashevsky has called “abstract biology” is through the study of
the class of (
)-systems that can be formed in an arbitrary subcategory of the category of sets. The concept of the (
)-system, however, depends on the availability of mappings that contain other mappings in their range. It is shown that, by
introducing an appropriate measure for this property, the problem of characterizing those categories suitable for a rich theory
of (
)-systems reduces to a problem familiar from the general theory of graphs. Some new results in these directions are obtained,
and it is then shown that any category with mappings that possess properties we might expect to hold in the physical world
will also admit a rich theory of (
)-systems. In particular, it is shown that a sufficiently large family of mappings drawn at random from such a category will
with overwhelming probability contain an (
)-system.
This research was supported by the United States Air Force through the Air Force Office of Scientific Research of the Air
Research and Development Command, under Grant No. AF-AFOSR-9-63. 相似文献
8.
Ivona Aksentijevich Luis Gruberg Elon Pras James E. Balow Jr. Michal Kovo Ephraim Gazit Michael Dean Mordechai Pras Daniel L. Kastner 《Human genetics》1993,91(6):527-534
Familial Mediterranean fever (FMF) is an autosomal recessive disorder of unknown pathogenesis, characterized by recurrent, selflimited attacks of fever with synovitis, peritonitis, or pleurisy. Using DNAs from affected Israeli families, we have recently mapped the gene causing FMF (designated MEF) to the short arm of chromosome 16, with two-point lod scores in excess of 20. In this report we consider the possibility of a second FMF susceptibility locus. Before discovering linkage to markers on chromosome 16, we had found suggestive evidence for linkage to chromosome 17q, with the following maximal two-point lod scores: D17S74 (pCMM86),
= 2.47, (
= 0.20); D17S40 (pLEW101),
= 2.15(
= 0.15); D17S35 (CRI-pP3-1),
= 1.78 (
= 0.15); D17S46 (pLEW108),
= 1.69 (
= 0.18), D17S254,
= 2.30 (
= 0.20). Moreover, multipoint linkage analysis using D17S74 and D17S40 as fixed loci gave
= 3.27 approximately 10 centimorgans (cM) telomeric to D17S40. Data with the chromosome 17 markers alone in our families suggested locus heterogeneity. Nevertheless, our families were not separable into complementary subsets showing linkage either to chromosome 16 or to chromosome 17. We also examined the possibility that the positive lod scores for chromosome 17 might reflect a secondary, modifying locus. By several measures of disease severity, families with positive lod scores for chromosome 17 loci had no worse disease than those with negative lod scores for these loci. We conclude that chromosome 17 does not encode a major FMF susceptibility gene for some of the families, nor does it encode a disease-modifying gene. Rather, it would appear that linkage to chromosome 17 is a false positive (type I) error. These results reemphasize the fact that a lod score of 3.0 corresponds to a posterior probability of linkage of 95%, with an attendant 1 in 20 chance of observing a false positive. 相似文献
9.
Evidence for four nonallelic structural genes for the γ chain of human fetal hemoglobin 总被引:4,自引:0,他引:4
T. H. J. Huisman W. A. Schroeder W. H. Bannister J. L. Grech 《Biochemical genetics》1972,7(2):131-139
An abnormal human fetal hemoglobin not only may be either aGγ- or anAγ-chain variant but also may be present in a different proportion of the total fetal hemoglobin.Gγ-Chain variants contribute either about one-fourth or one-eighth to the total production of HbF in the heterozygote, whereas
theAγ-chain variants approximate either one-eighth or one-sixteenth of the total HbF. These observations may indicate the presence
of four nonallelic Hbγ structural genes (termed
) which produce γ chains in an approximate ratio of 4 : 2 : 2 : 1. HbF Malta I is considered to be the product of a mutant
of the
locus, an undefined HbFx that of the
locus, HbF Hull and HbF Jamaica products of mutated
loci, and the newly discovered HbF Malta II a mutant of the
gene.
This work was supported in part by grants HL-05168 and HL-02558 from the National Institutes of Health, U.S. Public Health
Service. 相似文献
10.
Undifferentiated Friend erythroleukemic cells (FL cells) acquire membrane microviscosity (
), in accord with the culture cell density. At low cell density
poise, whereas at confluency it increases to
poise. Concomitantly, the total number of available transferrin receptors per cell decreases by about 80% upon increase in
cell density. Modulation of membrane microviscosity, by artificial alteration of the membrane cholesterol level, mediates
similar modulations of the availability of the transferrin receptors. The correlation between the availability of the transferrin
receptors and the membrane lipid fluidity may take part in the overt decrease in iron uptake by erythroid cells along the
erythropoiesis pathway. 相似文献
11.
Close linkage between Norrie disease,a cloned DNA sequence from the proximal short arm,and the centromere of the X chromosome 总被引:1,自引:1,他引:0
Liesbeth M. Bleeker-Wagemakers Ursula Friedrich A. Gal T. F. Wienker Mette Warburg H. -H. Ropers 《Human genetics》1985,71(3):211-214
Summary Norrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma).
Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination
was observed between the ND-locus (NDP) and the DXS7 locus, the latter followed as a DNA-restriction fragment length polymorphism,
detected by the recombinant DNA probe L1.28, and assigned to the region Xp11.2–Xp11.3. The maximum lod scores are
at
. Linkage data between NDP and the other genetic markers used in the present study are in keeping with this assignment of
the mutation to the proximal Xp. 相似文献
12.
Linkage relationship between the genes for adenosine deaminase and S-adenosyl-homocysteine hydrolase on human chromosome 20 总被引:2,自引:0,他引:2
Summary The genes for adenosine deaminase (ADA) and Sadenosyl homocysteine hydrolase (AHCY or SAHH) are known to be syntenic and within
measurable distance from each other, on chromosome 20 in man. In the present study an informative family is described in which
the recombination fraction (θ) between the respective genes is estimated to be about 0.18. Together with the published finding
of θ=0.15 (Eiberg and Mohr 1985) in informative Danish families, the recombination fraction for the pooled data is calculated
to be θ=0.14 (in men),
(in women) and
(both sexes taken together). 相似文献
13.
Jacopo P. Mortola anna Noworaj 《Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology》1985,155(2):171-176
Summary The resting oxygen consumption
and breathing pattern of nine newborn and adult species (ranging in body size from mouse to human) have been compared on the basis of data collected from the literature. Minute ventilation
is similarly linked to
at both ages, the percent of
extracted as O2
about 2.2. Tidal volume/kg is an interspecies constant in newborns and adults, approximately 8 ml/kg. Breathing frequency decreases with the increase in size in a different way at the two ages: large species have newborns breathing at rates 2–3 times above the corresponding adults' values, while in the small species newborns and adults breathe at almost the same rate. Therefore the newborns of the smallest species have both
and
below the expected values, implying a greater inability to cope with the external demands than newborns of larger species. Several considerations indicate that in the smallest newborns the mechanical properties of the respiratory system could be a constraint to resting ventilations larger than observed. It is therefore possible that their low
is the cause, and not the effect, of the relatively small
. 相似文献
14.
Gregory K. Snyder Wesley W. Weathers 《Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology》1977,117(3):291-301
Summary Resting rates of O2 consumption
against
, exercise endurance times and
during recovery from vigorous exercise were measured inSceloporus occidentalis captured near sea level and inS. graciosus captured above 2850 m. Oxygen consumption against
was also measured inS. occidentalis captured above 2850 m. When
was recorded continuously, as ambient
was slowly reduced from 155 Torr, it became directly dependent upon ambient
between 110 and 120 Torr. The critical
for the high altitude lizards was lower than that for the lowland lizards, which enabled the former to maintain relatively higher
's when ambient
was reduced below 120 Torr. The high altitude lizards also had significantly greater endurance when stimulated to exercise at 1600 m (
130 Torr). Both the higher
under hypoxia and the greater endurance roughly parallel a significantly greater maximum
in the high altitude lizards. At a simulated altitude of 3600 m (
100 Torr), maximum
and rate of recovery of the O2 debt calculated from post active
were significantly reduced in the lowland but not the high altitude lizards. The effects of simulated altitude conditions on the lowland but not the mountaine animals indicate adaptations to altitude in these sceloporine lizards. We did not find any consistent relationship between organ/body weight ratios or hematocrit and our measures of
endurance or the altitude at which the lizards were captured. 相似文献
15.
Takayoshi Yoshida Koji Yamamoto Masao Udo 《European journal of applied physiology and occupational physiology》1993,66(2):155-160
The purpose of the present study was to assess the relationship between the rapidity of increased gas exchange (i.e. oxygen uptake
) and increased cardiac output (
) during the transient phase following the onset of exercise. Five healthy male subjects performed multiple rest-exercise or light exercise (25 W)-exercise transitions on an electrically braked ergometer at exercise intensities of 50, 75, or 100 W for 6 min, respectively. Each transition was performed at least eight times for each load in random order. The
was obtained by a breath-by-breath method, and
was measured by an impedance method during normal breathing, using an ensemble average. On transitions from rest to exercise,
rapidly increased during phase I with time constants of 6.8–7.3 s. The
also showed a similar rapid increment with time constants of 6.0–6.8 s with an apparent increase in stroke volume (SV). In this phase I,
increased to about 29.7%–34.1% of the steady-state value and
increased to about 58.3%–87.0%. Thereafter, some 20 s after the onset of exercise a mono-exponential increase to steady-state occurred both in
and
with time constants of 26.7–32.3 and 23.7–34.4 s, respectively. The insignificant difference between
and
time constants in phase I and the abrupt increase in both
and SV at the onset of exercise from rest provided further evidence for a cardiodynamic contribution to
following the onset of exercise from rest. 相似文献
16.
T. B. R. J. Smith W. G. Hopkins N. A. S. Taylor 《European journal of applied physiology and occupational physiology》1994,69(1):44-49
The position of the body and use of the respiratory muscles in the act of rowing may limit ventilation and thereby reduce maximal aerobic power relative to that achieved in cycling or running, in spite of the greater muscle mass involved in rowing. This hypothesis was investigated for three groups of male subjects: nine elite senior oarsmen, eight former senior oarsmen and eight highly trained athletes unskilled in rowing. The subjects performed graded exercise to maximal effort on a rowing ergometer, cycle ergometer and treadmill while respiratory minute volume
and oxygen consumption
were monitored continuously. The VE at a given
during intense submaximal exercise (greater than 75% of maximal
) was not significantly lower in rowing compared with that in cycling and treadmill running for any group, which would suggest that submaximal rowing does not restrict ventilation. At maximal effort,
and
for rowing were less than those for the other types of exercise in all the groups, although the differences were not statistically significant in the elite oarsmen. These data are consistent with a ventilatory limitation to maximal performance in rowing that may have been partly overcome by training in the elite oarsmen. Alternatively, a lower maximal VE in rowing might have been an effect rather than a cause of a lower maximal
if maximal
was limited by the lower rate of muscle activation in rowing. 相似文献
17.
Øivind Andersen Johan B. Steen 《Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology》1986,156(6):823-828
Summary Nest humidity (
) under an incubating bantam hen was measured at ambient
ranging from 1.3 to 25.0 mmHg. Weight loss of eggs was recorded in clutches of varying size. Nest
and ambient
were also measured in wild incubating willow ptarmigan nests in dry and wet habitats.Nest
increased linearly with ambient
in a way predictable on the assumption that the water vapour conductance (
) of brood patch skin, plumage and eggs were constant and independent of ambient
. Nest
was also dependent of clutch size. Egg dehydration was quantitatively predicted from measured values and the laws of diffusion.Our findings confirm earlier conclusions that the adult bird does not actively regulate nest
at varying ambient
. Birds can presumably achieve appropriate egg dehydration by a strategy combining nest site, nest construction, egg shell conductance and incubation behaviour which meets the requirements of their breeding climate.Abbreviations
water vapur pressure
-
water vapur conductance
-
water flux 相似文献
18.
D. L. Evans R. J. Rose 《Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology》1988,157(6):791-799
Summary Six Standardbred horses were used to evaluate the time course of pulmonary gas exchange, ventilation, heart rate (HR) and acid base balance during different intensities of constant-load treadmill exercise. Horses were exercised at approximately 50%, 75% and 100% maximum oxygen uptake (
max) for 5 min and measurements taken every 30 s throughout exercise. At all work rates, the minute ventilation, respiratory frequency and tidal volume reached steady state values by 60 s of exercise. At 100%
max, the oxygen consumption (
) increased to mean values of approximately 130 ml/kg·min, which represents a 40-fold increase above resting
. At the low and moderate work rates,
showed no significant change from 30 s to 300 s of exercise. At the high work rate, the mean
at 30 s was 80% of the value at 300 s. The HR showed no significant change over time at the moderate work rate but differing responses at the low and high work rates. At the low work rate, the mean HR decreased from 188 beats/min at 30 s to 172 beats/min at 300 s exercise, whereas at the high work rate the mean HR increased from 204 beats/min at 30 s to 221 beats/min at 300 s exercise. No changes in acid base status occurred during exercise at the low work rate. At the moderate work rate, a mild metabolic acidosis occurred which was nonprogressive with time, whereas the high work rate resulted in a progressive metabolic acidosis with a base deficit of 16 mmol/l by 300 s exercise. It is concluded that the kinetics of gas exchange during exercise are more rapid in the horse than in man, despite the relatively greater change in
in the horse when going from rest to high intensity exercise.Symbols and abbreviations E
minute ventilation
-
V
T
tidal volume
-
oxygen uptake
-
carbon dioxide output
-
oxygen pulse
-
ventilatory equivalent for oxygen
-
ventilatory equivalent for carbon dioxide
- R
respiratory exchange ratio
- HR
heart rate
- SBC
standard bicarbonate
- STPD
standard temperature and pressure dry
- BTPS
body temperature and pressure saturated
-
arterial oxygen content
-
arteriovenous oxygen content difference
- Rf
respiratory frequency 相似文献
19.
Summary The complete sequence of the 5S rRNA from the bioluminescent bacterium,Beneckea harveyi has been determined to be p U G C U U G G C G
C C A U A G C G A
U U-G G A C C C A
C U G A (U) C U U C
A U U C C-G A A C
C A G A A G U G A
A C G A A U U A-G
G C C G A U G G U
G U G U G G G G C
U-C C C C A U G U
A G A G U A G G A
A U C G-C C A G G
U (U)OH.Two sites of sensitivity to ribonuclease T2 cleavage were identified; at A41 and either A54 or A55. Comparison with existing sequence information fromEscherichia coli andPhotobacterium phosphoreum clarifies the amount of diversity among the bioluminescent bacteria and provides further insight into their phylogenetic position. Sequence heterogeneities were encountered and the importance of these in interpreting 5S rRNA data is discussed. 相似文献
20.
Roger S. Seymour David Vleck Carol M. Vleck 《Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology》1986,156(6):773-782
Summary The brush turkey (Alectura lathami) and mallee fowl (Leipoa ocellata) are megapode birds that incubate their eggs by burying them in mounds. Respiratory gas exchange between the buried eggs and the atmosphere occurs mainly by diffusion through about 60 cm of decomposing forest litter (brush turkey) or sand (mallee fowl).Gas fluxes in the brush turkey mound are greatly influenced by the respiration of thermophilic microorganisms which consume O2 at rates over eight times that of all of the eggs. The respiratory exchange ratio (
) of the microorganisms is 0.75 and theQ
10 for metabolism is 2.56. Fermentation and nitrogen fixation do not occur in the mounds.If the mound becomes too wet, gas tensions near the eggs can become critical because water increases rates of microbial respiration and impedes gas diffusion. However, field mounds are relatively dry, possibly because the adult bird modifies the shape of the mound and affects the entry of rain water. At egg level in field mounds,
and
are about 132 and 21 Torr, respectively, in both species. Embryonic respiration decreases
and increases
about 5 Torr in the immediate environment of individual eggs in late development. Due to a high eggshell gas conductance, which increases during incubation, the gas tensions within the shell of late embryos (
ca. 108 Torr,
ca. 47 Torr) are not far from the mean values found in species that nest above ground. 相似文献